Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 |
|
0.700 | 1.000 | 41 | 2001 | 2018 | |||||||
|
0.790 | 0.080 | 3 | 36814539 | downstream gene variant | T/C | snv | 0.45 |
|
0.810 | 1.000 | 9 | 2010 | 2019 | ||||||||
|
0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 |
|
0.900 | 0.964 | 5 | 2008 | 2019 | ||||||||
|
0.827 | 0.080 | 11 | 79366149 | intron variant | A/G | snv | 0.15 |
|
0.820 | 1.000 | 5 | 2011 | 2018 | ||||||||
|
0.790 | 0.120 | 6 | 152469438 | intron variant | G/T | snv | 0.46 |
|
0.820 | 1.000 | 4 | 2011 | 2019 | ||||||||
|
0.851 | 0.040 | 10 | 60519366 | intron variant | C/T | snv | 9.5E-02 |
|
0.800 | 1.000 | 3 | 2011 | 2014 | ||||||||
|
0.851 | 0.040 | 1 | 78772330 | intergenic variant | T/C | snv | 0.29 |
|
0.800 | 1.000 | 3 | 2013 | 2014 | ||||||||
|
1.000 | 0.040 | 12 | 2310730 | intron variant | A/T | snv | 0.82 |
|
0.810 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
1.000 | 0.040 | 11 | 66783531 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 2 | 2011 | 2018 | |||||||||
|
0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 |
|
0.900 | 0.933 | 2 | 2008 | 2018 | ||||||||
|
0.882 | 0.040 | 10 | 60421370 | intron variant | G/A | snv | 7.5E-02 |
|
0.800 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.827 | 0.040 | 10 | 60462349 | intron variant | T/C | snv | 8.0E-02 |
|
0.810 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
1.000 | 0.040 | 15 | 38703290 | intron variant | A/G | snv | 0.24 |
|
0.800 | 1.000 | 2 | 2008 | 2011 | ||||||||
|
0.882 | 0.080 | 15 | 38694167 | intron variant | G/T | snv | 0.25 |
|
0.800 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
1.000 | 0.040 | 6 | 98106018 | intron variant | G/A | snv | 0.39 |
|
0.800 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
1.000 | 0.040 | 11 | 79351885 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.882 | 0.040 | 10 | 60540625 | intron variant | A/G | snv | 8.3E-02 |
|
0.840 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
1.000 | 0.040 | 11 | 79372205 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
1.000 | 0.040 | 3 | 52780240 | non coding transcript exon variant | T/A | snv | 0.44; 3.1E-03; 1.5E-04; 1.0E-05 | 0.42 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||
|
0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
0.925 | 0.040 | 3 | 52609669 | synonymous variant | T/C | snv | 0.39 | 0.34 |
|
0.700 | 1.000 | 2 | 2013 | 2013 | |||||||
|
0.925 | 0.040 | 16 | 23622705 | intron variant | A/C;G | snv |
|
0.810 | 1.000 | 2 | 2007 | 2011 | |||||||||
|
1.000 | 0.040 | 3 | 36827948 | 3 prime UTR variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.925 | 0.040 | 10 | 60425736 | intron variant | C/T | snv | 7.9E-02 |
|
0.800 | 1.000 | 2 | 2013 | 2014 |